S125* (p.Ser125Ter) variant of TBX20 (T-box transcription factor TBX20)
S125* (p.Ser125Ter) in TBX20 (T-box transcription factor TBX20) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
S125* (p.Ser125Ter) variant details
- p.Ser125Ter
- rs766692577
- ClinGen CA367264890
- ClinVar RCV000770948
- ClinVar RCV002272337
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.46
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)